(Q37741019)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20437059%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

review article

1 reference

title

Copy number variants at Williams-Beuren syndrome 7q11.23 region (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20437059%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

main subject

Williams-Beuren syndrome

1 reference

inferred from title

author

Nicola Brunetti-Pierri

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20437059%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

Lucia Micale

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20437059%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

Carmela Fusco

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20437059%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

author name string

Giuseppe Merla

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20437059%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

publication date

1 May 2010

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20437059%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20437059%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

volume

128

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20437059%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

page(s)

3-26

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20437059%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

issue

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20437059%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1007/s00439-010-0827-2

1 February 2020

exact match

0 references

cites work

Supravalvular aortic stenosis in association with mental retardation and a certain facial appearance.

1 reference

https://api.crossref.org/works/10.1007%2FS00439-010-0827-2

Evidence for superior parietal impairment in Williams syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-010-0827-2

The Williams syndrome. Spectrum and significance of ocular features.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-010-0827-2

Anomalous brain morphology on magnetic resonance images in Williams syndrome and Down syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-010-0827-2

Cerebral morphologic distinctions between Williams and Down syndromes

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-010-0827-2

Strabismus in Williams syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-010-0827-2

Two members of the Tcf family implicated in Wnt/beta-catenin signaling during embryogenesis in the mouse

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-010-0827-2

Characterizing the musical phenotype in individuals with Williams Syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-010-0827-2

Sensorineural hearing loss in children and adults with Williams syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-010-0827-2

Genomic deletions correlate with underexpression of novel candidate genes at six loci in pediatric pilocytic astrocytoma

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-010-0827-2

Anomalies of the abdominal aorta in Williams-Beuren syndrome--another cause of arterial hypertension

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-010-0827-2

Corpus callosum morphology of Williams syndrome: relation to genetics and behavior.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-010-0827-2

Specific neurobehavioral profile of Williams' syndrome is associated with neocerebellar hemispheric preservation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-010-0827-2

Supravalvular aortic stenosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-010-0827-2

Diagnosis of CMT1A duplications and HNPP deletions by interphase FISH: implications for testing in the cytogenetics laboratory

21 January 2018

1 reference

12 December 2020

WBSCR14, a gene mapping to the Williams--Beuren syndrome deleted region, is a new member of the Mlx transcription factor network

1 reference

12 December 2020

Musical behavior in a neurogenetic developmental disorder: evidence from Williams Syndrome.

1 reference

12 December 2020

Radioulnar synostosis in Williams-Beuren syndrome: a component manifestation

1 reference

12 December 2020

ASSOCIATION BETWEEN AORTIC STENOSIS AND FACIES OF SEVERE INFANTILE HYPERCALCAEMIA

1 reference

12 December 2020

Frizzled 9 knock-out mice have abnormal B-cell development

1 reference

12 December 2020

Prevalence estimation of Williams syndrome

1 reference

12 December 2020

A duplicated gene in the breakpoint regions of the 7q11.23 Williams-Beuren syndrome deletion encodes the initiator binding protein TFII-I and BAP-135, a phosphorylation target of BTK

1 reference

12 December 2020

Autism genome-wide copy number variation reveals ubiquitin and neuronal genes

1 reference

12 December 2020

Segmental copy number variation shapes tissue transcriptomes.

1 reference

12 December 2020

Association of Chiari I malformation and Williams syndrome

1 reference

12 December 2020

GTF2I hemizygosity implicated in mental retardation in Williams syndrome: genotype-phenotype analysis of five families with deletions in the Williams syndrome region.

1 reference

12 December 2020

Williams-Beuren facies with mental retardation and tetralogy of Fallot

1 reference

12 December 2020

A forkhead-domain gene is mutated in a severe speech and language disorder

1 reference

12 December 2020

Frizzled-9 promoter drives expression of transgenes in the medial wall of the cortex and its chief derivative the hippocampus

1 reference

12 December 2020

Williams-Beuren syndrome TRIM50 encodes an E3 ubiquitin ligase

1 reference

12 December 2020

Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities

1 reference

12 December 2020

Adults with Williams syndrome

1 reference

12 December 2020

Novel arterial pathology in mice and humans hemizygous for elastin

1 reference

12 December 2020

Morphometric studies using neuroimaging

1 reference

12 December 2020

New Findings concerning Cardiovascular Manifestations emerging from Long-term Follow-up of 150 patients with the Williams-Beuren-Beuren syndrome

1 reference

12 December 2020

Deletions within chromosome 22q11 in familial congenital heart disease

1 reference

12 December 2020

Neurologic features of Williams and Down syndromes

1 reference

12 December 2020

Williams syndrome deficits in visual spatial processing linked to GTF2IRD1 and GTF2I on chromosome 7q11.23

1 reference

12 December 2020

Williams-Beuren syndrome-associated transcription factor TFII-I regulates osteogenic marker genes

1 reference

12 December 2020

A novel human gene FKBP6 is deleted in Williams syndrome

1 reference

12 December 2020

Specific eating and sleeping problems in Prader-Willi and Williams-Beuren syndrome

1 reference

12 December 2020

The spectrum of ocular features in the Williams-Beuren syndrome.

1 reference

12 December 2020

Genomic disorders: structural features of the genome can lead to DNA rearrangements and human disease traits

1 reference

12 December 2020

Behavioral and emotional disturbance in individuals with Williams syndrome

1 reference

12 December 2020

STAG3, a novel gene encoding a protein involved in meiotic chromosome pairing and location of STAG3-related genes flanking the Williams-Beuren syndrome deletion

1 reference

12 December 2020

A 1.5 million-base pair inversion polymorphism in families with Williams-Beuren syndrome.

1 reference

12 December 2020

The ESCRT machinery in endosomal sorting of ubiquitylated membrane proteins

1 reference

12 December 2020

Recent segmental duplications in the human genome

1 reference

12 December 2020

Copy number variation in regions flanked (or unflanked) by duplicons among patients with developmental delay and/or congenital malformations; detection of reciprocal and partial Williams-Beuren duplications.

1 reference

12 December 2020

The Williams elfin facies syndrome. A new perspective

1 reference

12 December 2020

Using case study comparisons to explore genotype-phenotype correlations in Williams-Beuren syndrome

1 reference

12 December 2020

Cellular and clinical impact of haploinsufficiency for genes involved in ATR signaling

1 reference

12 December 2020

Synaptonemal complexes: structure and function

1 reference

12 December 2020

Williams syndrome: cognition, personality, and adaptive behavior

1 reference

12 December 2020

Elevated ambulatory blood pressure in 20 subjects with Williams syndrome

1 reference

12 December 2020

ChREBP: a glucose-activated transcription factor involved in the development of metabolic syndrome

1 reference

12 December 2020

Identification of additional transcripts in the Williams-Beuren syndrome critical region

1 reference

12 December 2020

Negative autoregulation of GTF2IRD1 in Williams-Beuren syndrome via a novel DNA binding mechanism

1 reference

12 December 2020

Guideline for the diagnosis and treatment of celiac disease in children: recommendations of the North American Society for Pediatric Gastroenterology, Hepatology and Nutrition

1 reference

12 December 2020

Progressive vascular lesions in Williams-Beuren syndrome

1 reference

12 December 2020

Cardiovascular manifestations in 75 patients with Williams syndrome

1 reference

12 December 2020

Risk of sudden death in the Williams-Beuren syndrome.

1 reference

12 December 2020

Unusual cognitive and behavioural profile in a Williams syndrome patient with atypical 7q11.23 deletion.

1 reference

12 December 2020

Renal tract ultrasonography and calcium homeostasis in Williams-Beuren syndrome.

1 reference

12 December 2020

Evolutionary mechanisms shaping the genomic structure of the Williams-Beuren syndrome chromosomal region at human 7q11.23

1 reference

12 December 2020

Coeliac disease in Williams syndrome

1 reference

12 December 2020

Comparative genomic sequence analysis of the Williams syndrome region (LIMK1-RFC2) of human chromosome 7q11.23

1 reference

12 December 2020

Two distinct human POM121 genes: requirement for the formation of nuclear pore complexes

1 reference

12 December 2020

Characterization of Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotype

1 reference

12 December 2020

Chromatin remodelling in mammalian differentiation: lessons from ATP-dependent remodellers

1 reference

12 December 2020

A mouse single-copy gene, Gtf2i, the homolog of human GTF2I, that is duplicated in the Williams-Beuren syndrome deletion region

1 reference

12 December 2020

GTF2IRD1 in craniofacial development of humans and mice

1 reference

12 December 2020

Copy number variants and genetic traits: closer to the resolution of phenotypic to genotypic variability

1 reference

12 December 2020

Distinctive Personality Characteristics of 8-, 9-, and 10-Year-Olds With Williams Syndrome

1 reference

12 December 2020

Characterization of two novel genes, WBSCR20 and WBSCR22, deleted in Williams-Beuren syndrome

1 reference

12 December 2020

Familial Williams-Beuren syndrome

1 reference

12 December 2020

Infantile spasms in a patient with williams syndrome and craniosynostosis.

1 reference

12 December 2020

Unique profile of visuo-perceptual skills in a genetic syndrome.

1 reference

12 December 2020

Frizzled9 protein is regionally expressed in the developing medial cortical wall and the cells derived from this region

1 reference

12 December 2020

The elastin gene is disrupted by a translocation associated with supravalvular aortic stenosis

1 reference

12 December 2020

Claudin-3 gene silencing with siRNA suppresses ovarian tumor growth and metastasis

1 reference

12 December 2020

Williams-Beuren syndrome: determination of deletion size using quantitative real-time PCR.

1 reference

12 December 2020

The Williams syndrome cognitive profile

1 reference

12 December 2020

Further clinical description of duplication of Williams-Beuren region presenting with congenital glaucoma and brachycephaly

1 reference

12 December 2020

Requirement for beta-catenin in anterior-posterior axis formation in mice

1 reference

12 December 2020

The chromatin-remodeling complex WINAC targets a nuclear receptor to promoters and is impaired in Williams syndrome

1 reference

12 December 2020

Further biochemical and kinetic characterization of human eukaryotic initiation factor 4H

1 reference

12 December 2020

Cortical dysplasia of the left temporal lobe might explain severe expressive-language delay in patients with duplication of the Williams-Beuren locus.

1 reference

12 December 2020

A p47-phox pseudogene carries the most common mutation causing p47-phox- deficient chronic granulomatous disease

1 reference

12 December 2020

Chiari I malformation in asymptomatic young children with Williams syndrome: clinical and MRI study

1 reference

12 December 2020

Xylulose 5-phosphate mediates glucose-induced lipogenesis by xylulose 5-phosphate-activated protein phosphatase in rat liver

1 reference

12 December 2020

Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant.

1 reference

12 December 2020

Aversion, awareness, and attraction: investigating claims of hyperacusis in the Williams syndrome phenotype.

1 reference

12 December 2020

Longitudinal evaluation of growth, puberty, and bone maturation in children with Williams syndrome

1 reference

12 December 2020

Comparison of TFII-I gene family members deleted in Williams-Beuren syndrome

1 reference

12 December 2020

Targeted mutation of Cyln2 in the Williams syndrome critical region links CLIP-115 haploinsufficiency to neurodevelopmental abnormalities in mice

1 reference

12 December 2020

Clinical features and management of arterial hypertension in children with Williams-Beuren syndrome.

1 reference

12 December 2020

DNA damage-induced ubiquitylation of RFC2 subunit of replication factor C complex

1 reference

12 December 2020

Williams-Beuren syndrome: genes and mechanisms

1 reference

12 December 2020

Mental health problems in adults with Williams syndrome.

1 reference

12 December 2020

Morphology and morphometry of the corpus callosum in Williams syndrome: a T1-weighted MRI study

1 reference

12 December 2020

Abnormal spine morphology and enhanced LTP in LIMK-1 knockout mice.

1 reference

12 December 2020

Mammalian STAG3 is a cohesin specific to sister chromatid arms in meiosis I.

1 reference

12 December 2020

Human DNA damage response and repair deficiency syndromes: linking genomic instability and cell cycle checkpoint proficiency

1 reference

12 December 2020

Genome architecture, rearrangements and genomic disorders

1 reference

12 December 2020

A triplication of the Williams-Beuren syndrome region in a patient with mental retardation, a severe expressive language delay, behavioural problems and dysmorphisms.

1 reference

12 December 2020

Large-scale copy number polymorphism in the human genome

1 reference

12 December 2020

The genomic basis of the Williams-Beuren syndrome

1 reference

12 December 2020

Germline rates of de novo meiotic deletions and duplications causing several genomic disorders

1 reference

12 December 2020

Severe type of infantile hypercalcaemia.

1 reference

12 December 2020

GTF2IRD1 regulates transcription by binding an evolutionarily conserved DNA motif 'GUCE'.

1 reference

12 December 2020

Integrated detection and population-genetic analysis of SNPs and copy number variation

1 reference

12 December 2020

Microduplication 22q11.2, an emerging syndrome: clinical, cytogenetic, and molecular analysis of thirteen patients

1 reference

12 December 2020

A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures

1 reference

12 December 2020

Three diagnostic signs in Williams syndrome

1 reference

12 December 2020

CLIP-115, a novel brain-specific cytoplasmic linker protein, mediates the localization of dendritic lamellar bodies

1 reference

12 December 2020

Is it Williams syndrome? GTF2IRD1 implicated in visual-spatial construction and GTF2I in sociability revealed by high resolution arrays

1 reference

12 December 2020

VI. Genome structure and cognitive map of Williams syndrome

1 reference

12 December 2020

Williams-Beuren syndrome: a challenge for genotype-phenotype correlations

1 reference

12 December 2020

MLPA analysis for a panel of syndromes with mental retardation reveals imbalances in 5.8% of patients with mental retardation and dysmorphic features, including duplications of the Sotos syndrome and Williams-Beuren syndrome regions.

1 reference

12 December 2020

Natural history of supravalvular aortic stenosis and pulmonary artery stenosis

1 reference

12 December 2020

Global variation in copy number in the human genome

1 reference

12 December 2020

Transgenic mouse overexpressing syntaxin-1A as a diabetes model

1 reference

12 December 2020

RETRACTED: Distinct function of 2 chromatin remodeling complexes that share a common subunit, Williams syndrome transcription factor (WSTF)

1 reference

12 December 2020

Connection between elastin haploinsufficiency and increased cell proliferation in patients with supravalvular aortic stenosis and Williams-Beuren syndrome

1 reference

12 December 2020

Dental characteristics in Williams syndrome: a clinical and radiographic evaluation.

1 reference

12 December 2020

Williams-Beuren syndrome and celiac disease

1 reference

12 December 2020

Genomic disorders ten years on.

1 reference

12 December 2020

Copy number variation at the 7q11.23 segmental duplications is a susceptibility factor for the Williams-Beuren syndrome deletion

1 reference

12 December 2020

Microduplications of 22q11.2 are frequently inherited and are associated with variable phenotypes.

1 reference

12 December 2020

A glucose-responsive transcription factor that regulates carbohydrate metabolism in the liver

1 reference

12 December 2020

Expression of Gtf2ird1, the Williams syndrome-associated gene, during mouse development.

1 reference

12 December 2020

Renal findings in 40 individuals with Williams syndrome.

1 reference

12 December 2020

American Academy of Pediatrics: Health care supervision for children with Williams syndrome

1 reference

12 December 2020

GTF2IRD2 is located in the Williams-Beuren syndrome critical region 7q11.23 and encodes a protein with two TFII-I-like helix-loop-helix repeats

1 reference

12 December 2020

Autism, language delay and mental retardation in a patient with 7q11 duplication.

1 reference

12 December 2020

An atypical deletion of the Williams-Beuren syndrome interval implicates genes associated with defective visuospatial processing and autism

1 reference

12 December 2020

Essential role of Fkbp6 in male fertility and homologous chromosome pairing in meiosis

1 reference

12 December 2020

The human calcitonin receptor gene (CALCR) at 7q21.3 is outside the deletion associated with the Williams syndrome

1 reference

12 December 2020

Detection of large-scale variation in the human genome

1 reference

12 December 2020

The gene for replication factor C subunit 2 (RFC2) is within the 7q11.23 Williams syndrome deletion

1 reference

12 December 2020

Androgen receptor-mediated repression of novel target genes

1 reference

12 December 2020

Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndrome.

1 reference

12 December 2020

An atypical 7q11.23 deletion in a normal IQ Williams-Beuren syndrome patient.

1 reference

12 December 2020

Prevalence of psychiatric disorders in 4 to 16-year-olds with Williams syndrome

1 reference

12 December 2020

Duplication of the Williams-Beuren critical region: case report and further delineation of the phenotypic spectrum.

1 reference

12 December 2020

Neuropsychological, neurological, and neuroanatomical profile of Williams syndrome

1 reference

12 December 2020

Williams-Beuren syndrome.

1 reference

12 December 2020

Statural growth in Williams-Beuren syndrome

1 reference

12 December 2020

The PCNA-RFC families of DNA clamps and clamp loaders

1 reference

12 December 2020

A critical role for elastin signaling in vascular morphogenesis and disease

1 reference

12 December 2020

Analysis of knock-out mice to determine the role of HPC-1/syntaxin 1A in expressing synaptic plasticity.

1 reference

12 December 2020

William's syndrome: gene expression is related to parental origin and regional coordinate control

1 reference

12 December 2020

Neurologic findings in children and adults with Williams syndrome.

1 reference

12 December 2020

Cloning of an inr- and E-box-binding protein, TFII-I, that interacts physically and functionally with USF1

1 reference

12 December 2020

1 reference

12 December 2020

Clinical manifestations and molecular investigation of 50 patients with Williams syndrome in the Greek population.

1 reference

12 December 2020

Molecular cloning of complex chromosomal translocation t(8;14;12)(q24.1;q32.3;q24.1) in a Burkitt lymphoma cell line defines a new gene (BCL7A) with homology to caldesmon

1 reference

12 December 2020

Impaired geometric reorientation caused by genetic defect

1 reference

12 December 2020

A DNA replication mechanism for generating nonrecurrent rearrangements associated with genomic disorders

1 reference

12 December 2020

Fine-scale comparative mapping of the human 7q11.23 region and the orthologous region on mouse chromosome 5G: the low-copy repeats that flank the Williams-Beuren syndrome deletion arose at breakpoint sites of an evolutionary inversion(s).

1 reference

12 December 2020

The DNA sequence of human chromosome 7

1 reference

12 December 2020

Isolated supravalvular aortic stenosis: functional haploinsufficiency of the elastin gene as a result of nonsense-mediated decay

1 reference

12 December 2020

Hemizygosity at the elastin locus in a developmental disorder, Williams syndrome.

1 reference

12 December 2020

Multisystem study of 20 older adults with Williams syndrome.

1 reference

12 December 2020

Natural history of Williams syndrome: physical characteristics

1 reference

12 December 2020

Genomic copy number variation, human health, and disease

1 reference

12 December 2020

A cognitive and behavioural phenotype in williams syndrome

1 reference

12 December 2020

Partial 7q11.23 deletions further implicate GTF2I and GTF2IRD1 as the main genes responsible for the Williams-Beuren syndrome neurocognitive profile.

1 reference

12 December 2020

Central precocious puberty in girls with Williams syndrome

1 reference

12 December 2020

The common inversion of the Williams-Beuren syndrome region at 7q11.23 does not cause clinical symptoms.

1 reference

12 December 2020

Thyroid morphology and subclinical hypothyroidism in children and adolescents with Williams syndrome

1 reference

12 December 2020

Presenting phenotype and clinical evaluation in a cohort of 22 Williams-Beuren syndrome patients.

1 reference

12 December 2020

Sigmoid diverticulitis in patients with Williams-Beuren syndrome: relatively high prevalence and high complication rate in young adults with the syndrome

1 reference

12 December 2020

Thyroid function and morphology in patients affected by Williams syndrome

1 reference

12 December 2020

Claudin proteins in human cancer: promising new targets for diagnosis and therapy

1 reference

12 December 2020

TFII-I gene family during tooth development: candidate genes for tooth anomalies in Williams syndrome.

1 reference

12 December 2020

Severe expressive-language delay related to duplication of the Williams-Beuren locus

1 reference

12 December 2020

Anxiety, Fears, and Phobias in Persons With Williams Syndrome

1 reference

12 December 2020

Diagnosis and management of medical problems in adults with Williams-Beuren syndrome

1 reference

12 December 2020

Sudden death in Williams syndrome: report of ten cases

1 reference

12 December 2020

Williams syndrome: autosomal dominant inheritance

1 reference

12 December 2020

beta-Catenin controls hair follicle morphogenesis and stem cell differentiation in the skin

1 reference

12 December 2020

Limk1 is predominantly expressed in neural tissues and phosphorylates serine, threonine and tyrosine residues in vitro.

1 reference

12 December 2020

Isolation and characterisation of GTF2IRD2, a novel fusion gene and member of the TFII-I family of transcription factors, deleted in Williams-Beuren syndrome

1 reference

12 December 2020

Structure and function of dendritic spines

1 reference

12 December 2020

Interstitial deletion of chromosome 7q in a patient with Williams syndrome and infantile spasms.

1 reference

12 December 2020

Williams syndrome and coeliac disease

1 reference

12 December 2020

Copy number variation in human health, disease, and evolution

1 reference

12 December 2020

Induced chromosome deletions cause hypersociability and other features of Williams-Beuren syndrome in mice

1 reference

12 December 2020

LIM-kinase1 hemizygosity implicated in impaired visuospatial constructive cognition

1 reference

12 December 2020

Glucose and cAMP regulate the L-type pyruvate kinase gene by phosphorylation/dephosphorylation of the carbohydrate response element binding protein

1 reference

12 December 2020

Incidence and spectrum of renal abnormalities in Williams-Beuren syndrome

1 reference

12 December 2020

Williams syndrome: use of chromosomal microdeletions as a tool to dissect cognitive and physical phenotypes

1 reference

12 December 2020

Deficiency of carbohydrate response element-binding protein (ChREBP) reduces lipogenesis as well as glycolysis

1 reference

12 December 2020

Autism and Williams syndrome: a case report.

1 reference

12 December 2020

TBL2, a novel transducin family member in the WBS deletion: characterization of the complete sequence, genomic structure, transcriptional variants and the mouse ortholog

1 reference

12 December 2020

Williams syndrome associated with complete atrioventricular septal defect

1 reference

12 December 2020

Essential functions of the Williams-Beuren syndrome-associated TFII-I genes in embryonic development

1 reference

12 December 2020

The Williams syndrome: evidence for possible autosomal dominant inheritance

1 reference

12 December 2020

Dysmorphic features, simplified gyral pattern and 7q11.23 duplication reciprocal to the Williams-Beuren deletion.

1 reference

12 December 2020

Infantile spasms in two children with Williams syndrome

1 reference

12 December 2020

Speech delay and autism spectrum behaviors are frequently associated with duplication of the 7q11.23 Williams-Beuren syndrome region.

1 reference

12 December 2020

A Brg1 null mutation in the mouse reveals functional differences among mammalian SWI/SNF complexes

1 reference

12 December 2020

Hemizygosity at the NCF1 gene in patients with Williams-Beuren syndrome decreases their risk of hypertension.

1 reference

12 December 2020

Brief report: four case histories and a literature review of Williams syndrome and autistic behavior

1 reference

12 December 2020

1 reference

12 December 2020

The subcellular localization of the ChoRE-binding protein, encoded by the Williams-Beuren syndrome critical region gene 14, is regulated by 14-3-3

1 reference

12 December 2020

Just another face in the crowd: evidence for decreased detection of angry faces in children with Williams syndrome.

1 reference

12 December 2020

Elastin: mutational spectrum in supravalvular aortic stenosis.

1 reference

12 December 2020

Inefficient search of large-scale space in Williams syndrome: further insights on the role of LIMK1 deletion in deficits of spatial cognition.

1 reference

12 December 2020

Carbohydrate responsive element-binding protein (ChREBP): a key regulator of glucose metabolism and fat storage

1 reference

12 December 2020

Submicroscopic deletion in patients with Williams-Beuren syndrome influences expression levels of the nonhemizygous flanking genes

1 reference

12 December 2020

Genomic organization of the genes Gtf2ird1, Gtf2i, and Ncf1 at the mouse chromosome 5 region syntenic to the human chromosome 7q11.23 Williams syndrome critical region.

1 reference

12 December 2020

LIM kinases: function, regulation and association with human disease

1 reference

12 December 2020

Analysis of the 5' region of PMS2 reveals heterogeneous transcripts and a novel overlapping gene

1 reference

12 December 2020

Copy number variants, diseases and gene expression

1 reference

12 December 2020

Contractures in patients with Williams syndrome

1 reference

12 December 2020

Exercise testing and 24-hour ambulatory blood pressure monitoring in children with Williams syndrome

1 reference

12 December 2020

Two high throughput technologies to detect segmental aneuploidies identify new Williams-Beuren syndrome patients with atypical deletions

1 reference

12 December 2020

MLPA and MAPH: new techniques for detection of gene deletions

1 reference

12 December 2020

Mutational mechanisms of Williams-Beuren syndrome deletions

1 reference

12 December 2020

Observation of a parental inversion variant in a rare Williams-Beuren syndrome family with two affected children

1 reference

12 December 2020

Familial Williams-Beuren syndrome showing varying clinical expression

1 reference

12 December 2020

Contribution of CYLN2 and GTF2IRD1 to neurological and cognitive symptoms in Williams Syndrome.

1 reference

12 December 2020

Detection of an atypical 7q11.23 deletion in Williams syndrome patients which does not include the STX1A and FZD3 genes

1 reference

12 December 2020

7q11.23 deletions in Williams syndrome arise as a consequence of unequal meiotic crossover.

1 reference

12 December 2020

Facial expression recognition in Williams syndrome.

1 reference

12 December 2020

Syntaxin 1A is required for normal in utero development

1 reference

12 December 2020